TL;DR👇 Variantyx lab is closed & not accepting samples on Dec 23, 24, 31. Please be aware of these dates when shipping samples.

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One more day to vote for an updated hashtag. Spread the word and see the results @EmilyT_GC

Learned a new affirmation from a 5yo today. I am brave of this project! Seriously quirky & poignant list left me wondering, when IS the appropriate time to throw a skunk on a bus?

Variantyx supports #SMFM22 happening on January 31st → ow.ly/q6rK50HGWSm We hope to see you there! Strong Moderate, have a great conference!

Carb/tomato/cheese, yes please! I feel seen 🧀

Wishing a joyous Spring Festival to all who are celebrating today. May the new year roar with prosperity, wisdom, and laughter. #YearoftheTiger2022

Any prospective GC’s with insights to share? #GeneChat

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It will be a long while until we see the recommendations this committee makes, but glad to know some attention is being focused here #GeneChat

Hundreds of studies have demonstrated the utility of applying sequencing approaches to rare disease.. More must be done to ensure that these services are accessible to all individuals, regardless of their background. Heidi Rehm writes in Nature Medicine nature.com/articles/s4159…

#RareDiseaseDay raises awareness for the 7,000+ #RareDiseases that affect over 25 million Americans and 300 million people worldwide! Join National Organization for Rare Disorders (NORD) in celebrating the rare community. Learn how to #ShowYourStripes: bit.ly/US-RDD22

#ICYMI So many inspiring stories were shared Monday for #rarediseaseday but Jansen’s story deserves a read. After a decade of testing and over 20 negative test results, #wholegenomesequencing found a variant in SYNGAP1 -starting this family down a new path of community & hope.

Ready to let my genetic geek roll at #ACMGmtg22. Always so much to see & learn! #GeneChat

I believe a vital part of informed consent for #genetictesting is knowing that the results will be used for benefit not harm- & those are defined by the person being tested. I stand open to listening & learning. #AutismAcceptanceMonth

My time sense is being high jacked by light in the skies this late in the day. My heart loves 8pm sunsets, but my head (& ability to leave work) haven’t caught up yet. #daylightsavings

Finally blocked out some time to sit and do the GC practice analysis. Who else still needs to finish? Only 5 days left! #genechat

#GeneChat do you work with docs that could use some updated genetics info? Check out the resources in this thread for NIHs Healthcare Professionals Genomics Education Week.

What a fun project- bookmarking to work on it this evening! #GeneChat

Curious about how to implement #WGS testing in your peds clinic? This might be an interesting webinar to check out. #GeneChat